SOX14 - SRY-box transcription factor 14 Gene

中文名称：SRY-box 转录因子 14

种属: Homo sapiens

同用名: SOX28

基因 ID: 8403 | 基因类型: protein coding

关于 SOX14

Cytogenetic location: 3q22.3 Genomic coordinates (GRCh38): 3:137,764,315-137,766,334 (from NCBI)

This gene has 1 transcript (splice variant), 246 orthologues and 20 paralogues.

功能概要

这种无内含子的基因编码参与胚胎发育调节和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族的成员。编码的蛋白质在与其他蛋白质形成蛋白质复合物后可以充当转录调节剂。该基因的突变被认为是导致与眼睑下垂、上睑下垂、内眦赘皮内翻综合征 (BPES) 和莫比乌斯综合征相关的肢体缺陷的原因。[RefSeq 提供，2008 年 7 月]

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with Other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]

SOX14 基因产物(1)

mRNA	Protein	Name
NM_004189.4	NP_004180.1	transcription factor SOX-14

SOX14 蛋白结构

HMG_box

SOXp

0
100
200
240 a.a.

蛋白主名

其他名称

transcription factor SOX-14

HMG box transcription factor SOX-14

SOX14 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SOX14	O95416	NAIF1	Homo sapiens	Q69YI7	Y2H Prey Pooling	25416956
种属内	SOX14	O95416	NAIF1	Homo sapiens	Q69YI7	Validated Y2H	25416956
种属内	SOX14	O95416	UQCRC1	Homo sapiens	P31930	Validated Y2H	32814053
种属内	SOX14	O95416	UQCRC1	Homo sapiens	P31930	Y2H Pooling	32814053
种属内	SOX14	O95416	UQCRC1	Homo sapiens	P31930	Y2H Array	32814053
种属内	SOX14	O95416	KRTAP15-1	Homo sapiens	Q3LI76	Y2H Array	32296183
种属内	SOX14	O95416	KRTAP15-1	Homo sapiens	Q3LI76	Y2H Prey Pooling	32296183
种属内	SOX14	O95416	KRTAP15-1	Homo sapiens	Q3LI76	Validated Y2H	32296183
种属内	SOX14	O95416	HTT	Homo sapiens	P42858	Validated Y2H	32814053
种属内	SOX14	O95416	HTT	Homo sapiens	P42858	Y2H Array	32814053
种属内	SOX14	O95416	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
种属内	SOX14	O95416	NR3C1	Homo sapiens	P04150	Validated Y2H	32814053
种属内	SOX14	O95416	NR3C1	Homo sapiens	P04150	Y2H Array	32814053
种属内	SOX14	O95416	NR3C1	Homo sapiens	P04150	Y2H Pooling	32814053
种属内	SOX14	O95416	ROR2	Homo sapiens	Q01974	Validated Y2H	32296183
种属内	SOX14	O95416	SPMIP9	Homo sapiens	Q96LM6	Y2H Array	32296183
种属内	SOX14	O95416	SPMIP9	Homo sapiens	Q96LM6	Y2H Prey Pooling	32296183
种属内	SOX14	O95416	SPMIP9	Homo sapiens	Q96LM6	Validated Y2H	32296183
种属内	SOX14	O95416	CRX	Homo sapiens	O43186	Y2H Array	32296183
种属内	SOX14	O95416	CRX	Homo sapiens	O43186	Y2H Prey Pooling	32296183
种属内	SOX14	O95416	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
种属内	SOX14	O95416	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
种属内	SOX14	O95416	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
种属内	SOX14	O95416	ATXN3	Homo sapiens	P54252	Y2H Pooling	32814053
种属内	SOX14	O95416	ATXN3	Homo sapiens	P54252	Validated Y2H	32814053
种属内	SOX14	O95416	ATXN3	Homo sapiens	P54252	Y2H Array	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Blepharophimosis

Bestiality

Zoophilia

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria	Dpys Deficiency
Dph Deficiency	DPYSD
Dihydrouracil Amidohydrolase Deficiency	Dihydropyrimidinuria Due To Dpys Deficiency

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome	BPES
Blepharophimosis Syndrome	Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome	Bpes With Duane Retraction Syndrome
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2	Bpes Type 2
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
3q23 Microdeletion Syndrome	Bpes Plus
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1	Bpes Type 1
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure	Blepharophimosis, Ptosis, Epicanthus Inversus
Autosomal Dominant Bpes Type I	Autosomal Recessive Bpes Type I
Bpes Type I	Bpes Type Ii
Bpes Without Ovarian Failure	Bpes With Ovarian Failure
Blepharophimosis Syndrome Type 1	Blepharophimosis Syndrome Type 2

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13587	SOX14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SOX14	RGD	RGD:1309654
Mus musculus	SOX14	MGD	MGI:98362
Macaca mulatta	SOX14	VGNC	VGNC:77840
Bos taurus	SOX14	VGNC	VGNC:106946
Felis catus	SOX14	VGNC	VGNC:102847

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